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dbVar

Database of genomic structural variation

nsv6120682

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:330

Description:nsv5506826 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 102 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):68,356,150-68,356,479

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6120682	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	68,356,150	68,356,479
nsv6120682	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	68,822,867	68,823,196

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17963646	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17963646	Remapped	Perfect	NC_000014.9:g.6835 6150_68356479dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	68,356,150	68,356,479
nssv17963646	Submitted genomic		NC_000014.8:g.6882 2867_68823196dup	GRCh37 (hg19)		NC_000014.8	Chr14	68,822,867	68,823,196

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17963646	0.16	1012	6342

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